Janet Koster

A Lethal Defect of Mitochondrial and Peroxisomal Fission

Hans R. Waterham, Janet Koster, Carlo W.T. van Roermund et al. · New England Journal of Medicine · 2007 · 739 citations

Mitophagy, Genetics, Molecular Biology +16

Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Hans R. Waterham, Janet Koster, G. J. Romeijn et al. · The American Journal of Human Genetics · 2001 · 351 citations · Full text

Cholesterol Biosynthesis, Biosynthesis, Oxysterol +10

Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

Hans R. Waterham, Janet Koster, P. A. W. Mooyer et al. · The American Journal of Human Genetics · 2003 · 213 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

Frédéric M. Vaz, Coen C. Paulusma, Hidde H. Huidekoper et al. · Hepatology · 2014 · 204 citations · Full text

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes et al. · Human Mutation · 2010 · 154 citations · Full text

Mendelian Disorder, Genetic Disorder, Zss Disorders +15